Bohdan Gorski

Summary

Affiliation: University of Szczecin
Country: Poland

Publications

  1. pmc A common missense variant in BRCA2 predisposes to early onset breast cancer
    Bohdan Gorski
    Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland
    Breast Cancer Res 7:R1023-7. 2005
  2. ncbi request reprint A high proportion of founder BRCA1 mutations in Polish breast cancer families
    Bohdan Gorski
    Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland
    Int J Cancer 110:683-6. 2004
  3. ncbi request reprint Breast cancer predisposing alleles in Poland
    B Gorski
    Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Polabska 4, Szczecin, Poland 70 115
    Breast Cancer Res Treat 92:19-24. 2005
  4. ncbi request reprint Usefulness of polymorphic markers in exclusion of BRCA1/BRCA2 mutations in families with aggregation of breast/ovarian cancers
    Bohdan Gorski
    Department of Genetics and Pathology, Pomeranian Medical University, ul Połabska 4, Szczecin 70 115, Poland
    J Appl Genet 44:419-23. 2003
  5. ncbi request reprint Selected Aspects of Molecular Diagnostics of Constitutional Alterations in BRCA1 and BRCA2 Genes Associated with Increased Risk of Breast Cancer in the Polish Population
    Bohdan Gorski
    Department of Genetics and Pathology, International Hereditary Cancer Centre, Pomeranian Medical University, Szczecin, Poland
    Hered Cancer Clin Pract 4:142-52. 2006
  6. ncbi request reprint Germline 657del5 mutation in the NBS1 gene in breast cancer patients
    Bohdan Gorski
    Department of Genetics and Pathology, Pomeranian Academy of Medicine, Szczecin 70 111, Al Powst Wlkp 72, Poland
    Int J Cancer 106:379-81. 2003
  7. ncbi request reprint BARD1 and breast cancer in Poland
    Anna Jakubowska
    Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland
    Breast Cancer Res Treat 107:119-22. 2008
  8. pmc Ovarian cancer risk in Polish BRCA1 mutation carriers is not associated with the prohibitin 3' untranslated region polymorphism
    Anna Jakubowska
    Pomeranian Medical University, Department of Genetics and Pathology, ul Polabska 4, 70 115 Szczecin, Poland
    BMC Cancer 8:90. 2008
  9. doi request reprint Do BRCA1 modifiers also affect the risk of breast cancer in non-carriers?
    Anna Jakubowska
    International Hereditary Cancer Centre IHCC, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland
    Eur J Cancer 45:837-42. 2009
  10. ncbi request reprint The RAD51 135 G>C polymorphism modifies breast cancer and ovarian cancer risk in Polish BRCA1 mutation carriers
    Anna Jakubowska
    Department of Genetics and Pathology, Pomeranian Medical University, Polabska 4, 70 115 Szczecin, Poland
    Cancer Epidemiol Biomarkers Prev 16:270-5. 2007

Collaborators

Detail Information

Publications64

  1. pmc A common missense variant in BRCA2 predisposes to early onset breast cancer
    Bohdan Gorski
    Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland
    Breast Cancer Res 7:R1023-7. 2005
    ..For a deleterious variant, one would expect a greater allele frequency in breast cancer cases than in ethnic-matched controls. In contrast, neutral polymorphic variants should be equally frequent in the two groups...
  2. ncbi request reprint A high proportion of founder BRCA1 mutations in Polish breast cancer families
    Bohdan Gorski
    Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland
    Int J Cancer 110:683-6. 2004
    ..This rapid test will facilitate large-scale national epidemiologic and clinical studies of hereditary breast cancer, potentially including studies of chemoprevention...
  3. ncbi request reprint Breast cancer predisposing alleles in Poland
    B Gorski
    Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Polabska 4, Szczecin, Poland 70 115
    Breast Cancer Res Treat 92:19-24. 2005
    ..1) than for the missense mutation I157T (OR=1.4). This study suggests that cancer risks may be specific for particular alleles of a susceptibility gene and that these different risks should be taken into account by genetic counselors...
  4. ncbi request reprint Usefulness of polymorphic markers in exclusion of BRCA1/BRCA2 mutations in families with aggregation of breast/ovarian cancers
    Bohdan Gorski
    Department of Genetics and Pathology, Pomeranian Medical University, ul Połabska 4, Szczecin 70 115, Poland
    J Appl Genet 44:419-23. 2003
    ..Among 14 families without BRCA1 Polish founder mutations in this gene were excluded in 2 families and BRCA2 mutation was excluded in one family...
  5. ncbi request reprint Selected Aspects of Molecular Diagnostics of Constitutional Alterations in BRCA1 and BRCA2 Genes Associated with Increased Risk of Breast Cancer in the Polish Population
    Bohdan Gorski
    Department of Genetics and Pathology, International Hereditary Cancer Centre, Pomeranian Medical University, Szczecin, Poland
    Hered Cancer Clin Pract 4:142-52. 2006
    ..Apparently, the recessive character of these changes is responsible for the negative family history in most cases. The use of DNA tests is the only way to disclose increased risk of breast cancer in carriers of the 5972T/T mutation...
  6. ncbi request reprint Germline 657del5 mutation in the NBS1 gene in breast cancer patients
    Bohdan Gorski
    Department of Genetics and Pathology, Pomeranian Academy of Medicine, Szczecin 70 111, Al Powst Wlkp 72, Poland
    Int J Cancer 106:379-81. 2003
    ..It appears that the 657del5 mutation in exon 6 of the NBS1 gene is responsible for the occurrence of a small but significant proportion of familial breast cancer patients...
  7. ncbi request reprint BARD1 and breast cancer in Poland
    Anna Jakubowska
    Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland
    Breast Cancer Res Treat 107:119-22. 2008
    ..To investigate whether or not a genetic variant in BARD1 (Cys557Ser) contributes to early-onset breast cancer in Poland, or modifies the risk of breast cancer in women with an inherited predisposition to breast cancer...
  8. pmc Ovarian cancer risk in Polish BRCA1 mutation carriers is not associated with the prohibitin 3' untranslated region polymorphism
    Anna Jakubowska
    Pomeranian Medical University, Department of Genetics and Pathology, ul Polabska 4, 70 115 Szczecin, Poland
    BMC Cancer 8:90. 2008
    ..The C to T transition in the 3' untranslated region of the prohibitin (PHB) gene alters mRNA function and has recently been shown to be associated with hereditary breast cancer risk in Polish women harbouring BRCA1 mutations...
  9. doi request reprint Do BRCA1 modifiers also affect the risk of breast cancer in non-carriers?
    Anna Jakubowska
    International Hereditary Cancer Centre IHCC, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland
    Eur J Cancer 45:837-42. 2009
    ..The PHB 1630 C/T single nucleotide polymorphism was associated with breast cancers with clinical features typical for BRCA1-positive tumours and is deserving of further study...
  10. ncbi request reprint The RAD51 135 G>C polymorphism modifies breast cancer and ovarian cancer risk in Polish BRCA1 mutation carriers
    Anna Jakubowska
    Department of Genetics and Pathology, Pomeranian Medical University, Polabska 4, 70 115 Szczecin, Poland
    Cancer Epidemiol Biomarkers Prev 16:270-5. 2007
    ..In conclusion, the RAD51 C allele seems to protect against both breast and ovarian cancer in women harboring BRCA1 mutations...
  11. doi request reprint BRCA1 mutations and colorectal cancer in Poland
    Janina Suchy
    Department of Genetics and Pathology, Pomeranian Medical University, International Hereditary Cancer Center, Szczecin, Poland
    Fam Cancer 9:541-4. 2010
    ..0 years vs. 64.0) and the difference was significant (P = 0.05). This study suggests that BRCA1 mutations may be associated with early-onset of colorectal cancer...
  12. ncbi request reprint Breast cancer susceptibility genes
    Jan Lubinski
    Pomeranian Medical University, Department of Genetics and Pathology, International Hereditary Cancer Center, Szczecin, Poland
    J BUON 12:S23-9. 2007
    ..We are presenting it on examples of late-onset breast cancers from Poland, but it seems to be justified to expect that similar results can be achieved from other malignancies...
  13. ncbi request reprint BRCA1 mutations and prostate cancer in Poland
    Cezary Cybulski
    Department of Genetics and Pathology, International Hereditary Cancer Center, Poland
    Eur J Cancer Prev 17:62-6. 2008
    ..1-11.3; P=0.045); in particular for familial prostate cancer (odds ratio=12; 95% confidence interval: 2.9-51; P=0.0004). We consider that the risk of prostate cancer in BRCA1 carriers varies with the position of the mutation...
  14. ncbi request reprint Epistatic relationship between the cancer susceptibility genes CHEK2 and p27
    Cezary Cybulski
    Pomeranian Medical University, Szczecin, Poland
    Cancer Epidemiol Biomarkers Prev 16:572-6. 2007
    ..Two-gene models provide numerous challenges for gene identification and cancer risk assessment...
  15. doi request reprint Genetic contribution to all cancers: the first demonstration using the model of breast cancers from Poland stratified by age at diagnosis and tumour pathology
    Jan Lubinski
    Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Polabska 4, 70 115, Szczecin, Poland
    Breast Cancer Res Treat 114:121-6. 2009
    ..Markers associated with majority of groups included: BRCA1, CHEK2, p53, TNRnTT, FGFRnAA, XPD CC/AA and XPD GG. Some markers appeared to be group specific and included polymorphisms in CDKN2A, CYP1B1, M3K nAA, and RS67...
  16. doi request reprint Low prevalence of CDKN2A/ARF mutations among early-onset cancers of breast, pancreas and malignant melanoma in Poland
    Tadeusz Debniak
    Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, ul Polabska 4, 70 115 Szczecin, Poland
    Eur J Cancer Prev 17:389-91. 2008
    ..The results of this study revealed a paucity of mutations in CDKN2A/ARF suggesting that in the Polish population this gene does not contribute significantly to early-onset breast cancer, pancreatic cancer and malignant melanoma...
  17. ncbi request reprint Germline 657del5 mutation in the NBS1 gene in patients with malignant melanoma of the skin
    Tadeusz Debniak
    Department of Genetics, Pomeranian Academy of Medicine, Szczecin 70 111, Poland
    Melanoma Res 13:365-70. 2003
    ..It seems that the 657del5 mutation of exon 6 of NBS1 gene may be responsible for the occurrence of a small proportion of MM patients, characterized by the occurrence of breast cancer among their relatives...
  18. doi request reprint CHEK2 mutations and HNPCC-related colorectal cancer
    Janina Suchy
    International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, il Połabska 4, Szczecin, Poland
    Int J Cancer 126:3005-9. 2010
    ..5; p < 0.0001). We conclude that the I157T variant of CHEK2 increases the risk of colorectal cancer among MMR-negative, HNPCC/HNPCC-related families in Poland...
  19. ncbi request reprint Methylenetetrahydrofolate reductase polymorphisms modify BRCA1-associated breast and ovarian cancer risks
    Anna Jakubowska
    Pomeranian Medical University, ul Polabska 4, 70 111, Szczecin, Poland
    Breast Cancer Res Treat 104:299-308. 2007
    ..Together, it appears that functional polymorphisms in the MTHFR gene modify the risk of breast and may potentially alter the risk of ovarian cancer in women with an inherited predisposition...
  20. ncbi request reprint CDKN2A-positive breast cancers in young women from Poland
    Tadeusz Debniak
    Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, ul Połabska 4, Szczecin, Poland
    Breast Cancer Res Treat 103:355-9. 2007
    ..To investigate the contribution of CDKN2A A148T common variant to early-onset breast cancer in Poland, and to establish the characteristic features of these cancers...
  21. doi request reprint Synergistic interaction of variants in CHEK2 and BRCA2 on breast cancer risk
    Pablo Serrano-Fernandez
    International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland
    Breast Cancer Res Treat 117:161-5. 2009
    ..03). These data suggest that the BRCA2 T1915M polymorphism alone might be associated with a reduced risk of breast cancer, but among CHEK2 mutation carriers, it may lead to an unexpectedly high risk...
  22. ncbi request reprint Germline CHEK2 mutations and colorectal cancer risk: different effects of a missense and truncating mutations?
    Cezary Cybulski
    Pomeranian Medical University, Szczecin, Poland
    Eur J Hum Genet 15:237-41. 2007
    ..It is important that other studies of CHEK2 mutation carriers be conducted to confirm this hypothesis...
  23. ncbi request reprint The 3' untranslated region C > T polymorphism of prohibitin is a breast cancer risk modifier in Polish women carrying a BRCA1 mutation
    Anna Jakubowska
    Department of Genetics and Pathology, Pomeranian Medical University, ul Polabska 4, 70 115 Szczecin, Poland
    Breast Cancer Res Treat 104:67-74. 2007
    ..Breast cancer risk did not differ between carriers of the 300 T > G and 5382insC mutation. Our results suggest that the PHB 3'UTR T allele increases the risk of breast cancer in patients who are already at increased risk of disease...
  24. doi request reprint The rs1447295 and DG8S737 markers on chromosome 8q24 and cancer risk in the Polish population
    Dominika Wokołorczyk
    International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, ul Polabska 4, Szczecin 70 115, Poland
    Eur J Cancer Prev 19:167-71. 2010
    ..Although the carcinogenic mechanism associated with this particular locus of 8q24 is unclear it appears to be specific to prostate cancer...
  25. ncbi request reprint Rarity of germline 1100delC mutation in CHK2 in patients with malignant melanoma of the skin
    Tadeusz Debniak
    Department of Genetics and Pathology, Pomeranian Academy of Medicine, Szczecin 70 111, Al Powst Wlkp 72, Poland
    Melanoma Res 14:121-4. 2004
    ..To evaluate whether this CHK2 founder mutation is associated with MM in patients with LFS syndrome, more MM cases from LFS families should be examined...
  26. doi request reprint BRCA1-associated breast and ovarian cancer risks in Poland: no association with commonly studied polymorphisms
    Anna Jakubowska
    Pomeranian Medical University, Szczecin, Poland
    Breast Cancer Res Treat 119:201-11. 2010
    ..Thus, it appears that these polymorphisms do not influence disease risk in Polish women carrying one of the three common BRCA1 founder mutations...
  27. pmc Variant alleles of the CYP1B1 gene are associated with colorectal cancer susceptibility
    Joanna Trubicka
    Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland
    BMC Cancer 10:420. 2010
    ..Because differences in the activity of the enzyme have been correlated with variant alleles of single nucleotide polymorphisms (SNPs), it represents an attractive candidate gene for studies into colorectal cancer susceptibility...
  28. ncbi request reprint MC1R common variants, CDKN2A and their association with melanoma and breast cancer risk
    Tadeusz Debniak
    Department of Genetics and Pathology, International Hereditary Cancer Centre, Pomeranian Medical University, Szczecin, Poland
    Int J Cancer 119:2597-602. 2006
    ..The risk of disease seems to be increased additively for patients harbouring also the CDKN2A common variant A148T...
  29. ncbi request reprint CDKN2A common variant and multi-organ cancer risk--a population-based study
    Tadeusz Debniak
    Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland
    Int J Cancer 118:3180-2. 2006
    ..5; p = 0.5499). These results suggest that A148T variant may be associated with a multi-organ cancer risk in the Polish population...
  30. ncbi request reprint Molecular basis of inherited predispositions for tumors
    Jan Lubinski
    Department of Genetics and Pathology, Pomeranian Academy of Medicine, Szczecin, Poland
    Acta Biochim Pol 49:571-81. 2002
    ....
  31. ncbi request reprint A high frequency of BRCA2 gene mutations in Polish families with ovarian and stomach cancer
    Anna Jakubowska
    Department of Genetics and Pathology, Pomeranian Academy of Medicine, Szczecin, Poland
    Eur J Hum Genet 11:955-8. 2003
    ..It is expected that the penetrance of BRCA2 mutations for stomach cancer will vary from country to country, reflecting local environmental and lifestyle factors...
  32. ncbi request reprint Cancer Familial Aggregation (CFA) and G446A polymorphism in ARLTS1 gene
    Bartłomiej Masojć
    International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland
    Breast Cancer Res Treat 99:59-62. 2006
    ..Moreover, the G446A polymorphism is not significantly more frequent in CFA cases except for families in which the proband had melanoma. To confirm this result more cases of melanoma should be analysed...
  33. ncbi request reprint CYP1B1 and predisposition to breast cancer in Poland
    Joanna Matyjasik
    Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland
    Breast Cancer Res Treat 106:383-8. 2007
    ..The CYP1B1 gene is a polymorphic member of the P450 gene family and is considered to be a candidate gene for cancers of various types...
  34. ncbi request reprint Ovarian cystadenoma as a characteristic feature of families with hereditary ovarian cancers unassociated with BRCA1 and BRCA2 mutations
    Janusz Menkiszak
    Department of Surgical Gynecology and Gynecological Oncology of Adults and Adolescents, Pomeranian Medical University, Szczecin, Poland
    J Appl Genet 45:255-63. 2004
    ..We concluded that cystadenoma is likely to be a characteristic feature of the subgroup of families with hereditary ovarian cancers unassociated with BRCA1/BRCA2 constitutional mutations...
  35. doi request reprint Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer
    Cezary Cybulski
    International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, ul Połabska 4, 70 115 Szczecin, Poland
    J Clin Oncol 29:3747-52. 2011
    ..To estimate the risk of breast cancer in a woman who has a CHEK2 mutation depending on her family history of breast cancer...
  36. ncbi request reprint Germline mutations in the CHEK2 kinase gene are associated with an increased risk of bladder cancer
    Elzbieta Złowocka
    International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland
    Int J Cancer 122:583-6. 2008
    ..A CHEK2 mutation (all variants combined) was found in 10.6% of the cancer cases and in 5.9% of the controls (OR = 1.9; 95%CI 1.3-2.7; p = 0.0003). We conclude that CHEK2 mutations increase the risk of bladder cancer in the population...
  37. doi request reprint The VEGF_936_C>T 3'UTR polymorphism reduces BRCA1-associated breast cancer risk in Polish women
    Anna Jakubowska
    Pomeranian Medical University, Department of Genetics and Pathology, Szczecin, Poland
    Cancer Lett 262:71-6. 2008
    ..63, 95% CI, 0.48-0.83), and a potential effect on ovarian cancer risk (OR(adj) 0.62, 95% CI, 0.33-1.18; OR(clustered) 0.62, 95% CI, 0.47-0.83). Thus, the 936_C>T polymorphism appears to modify disease risks in BRCA1 carriers...
  38. ncbi request reprint A deletion in CHEK2 of 5,395 bp predisposes to breast cancer in Poland
    Cezary Cybulski
    Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, ul Połabska 4, 70 115 Szczecin, Poland
    Breast Cancer Res Treat 102:119-22. 2007
    ..This is one of the most common protein-truncating CHEK2 variants in Poland. Overall, 2% of all breast cancers in Poland can be attributed to one of three protein-truncating mutations in CHEK2...
  39. doi request reprint A range of cancers is associated with the rs6983267 marker on chromosome 8
    Dominika Wokolorczyk
    International Hereditary Cancer Center, Department of Genetics and Pathology and Clinic of Urology, Pomeranian Medical University, Szczecin, Poland
    Cancer Res 68:9982-6. 2008
    ..Our results suggest that the range of cancers associated with the rs6983267 marker might be larger than previously thought...
  40. ncbi request reprint Breast cancer risk reduction associated with the RAD51 polymorphism among carriers of the BRCA1 5382insC mutation in Poland
    Anna Jakubowska
    Department of Genetics and Pathology, Pomeranian Academy of Medicine, Szczecin 70 115, Poland
    Cancer Epidemiol Biomarkers Prev 12:457-9. 2003
    ..07-0.62; P = 0.0015). This finding suggests that RAD51 is a genetic modifier of breast cancer risk in BRCA1 carriers in the Polish population. It will be of interest to confirm this in other populations as well...
  41. ncbi request reprint Hereditary ovarian cancer in Poland
    Janusz Menkiszak
    Department of Surgical Gynecology and Gynecological Oncology of Adults and Adolescents, Pomeranian Medical University, Szczecin, Poland
    Int J Cancer 106:942-5. 2003
    ..It is important that mutation surveys be conducted in other countries prior to the introduction of national genetic screening programs...
  42. ncbi request reprint CDKN2A common variants and their association with melanoma risk: a population-based study
    Tadeusz Debniak
    Departments of Genetics and Pathology, International Hereditary Cancer Center and Dermatology and Venerology, Pomeranian Medical University, Połabska 4, 70 115 Szczecin, Poland
    Cancer Res 65:835-9. 2005
    ..Additional studies are required to confirm whether this particular change is associated with increased risk of other nonmelanoma malignancies...
  43. ncbi request reprint A novel founder CHEK2 mutation is associated with increased prostate cancer risk
    Cezary Cybulski
    International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland
    Cancer Res 64:2677-9. 2004
    ..Our results provide evidence that the two truncating mutations of CHEK2 confer a moderate risk of prostate cancer in Polish men and that the missense change appears to confer a modest risk...
  44. ncbi request reprint CHEK2-positive breast cancers in young Polish women
    Cezary Cybulski
    International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland
    Clin Cancer Res 12:4832-5. 2006
    ..To investigate the contribution of CHEK2 mutations to early-onset breast cancer in Poland and to establish the characteristic features of these cancers...
  45. doi request reprint Genotyping by induced Förster Resonance Energy Transfer(iFRET) mechanism and simultaneous mutation scanning
    Bartłomiej Masojć
    Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland
    Hum Mutat 34:636-43. 2013
    ..5% to 6.2%, respectively. The technique presented in this article is a useful and cost-effective method for the detection of both germline and somatic mutations...
  46. doi request reprint Constitutional CHEK2 mutations are associated with a decreased risk of lung and laryngeal cancers
    Cezary Cybulski
    International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, ul Połabska 4, 70 115 Szczecin, Poland
    Carcinogenesis 29:762-5. 2008
    ..g. p53 mutations) and have a high level of genotoxic DNA damage induced by tobacco smoke. We speculate that lung cancer cells with impaired CHEK2 function undergo increased rates of cell death...
  47. pmc The risk of breast cancer in women with a BRCA1 mutation from North America and Poland
    Jan Lubinski
    International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland
    Int J Cancer 131:229-34. 2012
    ..The reasons for the difference are unknown, but this observation suggests that environmental factors or genetic modifiers are important in determining risk...
  48. ncbi request reprint Germline mutation and large deletion analysis of the CDKN2A and ARF genes in families with multiple melanoma or an aggregation of malignant melanoma and breast cancer
    Tadeusz Debniak
    Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland
    Int J Cancer 110:558-62. 2004
    ..The results revealed a paucity of mutations in CDKN2A/ARF, suggesting that in the Polish population this gene does not contribute significantly to either FMM or MM within the context of CFA...
  49. pmc The 3020insC Allele of NOD2 Predisposes to Cancers of Multiple Organs
    Jan Lubinski
    Pomeranian Medical University, Szczecin, Poland
    Hered Cancer Clin Pract 3:59-63. 2005
    ..3% of individuals) and may be responsible for an important fraction of cancer cases. We estimate that the lifetime cancer risk among carriers of this allele is 30% higher than that of individuals with two wild-type alleles...
  50. ncbi request reprint High incidence of 4153delA BRCA1 gene mutations in Lithuanian breast- and breast-ovarian cancer families
    Jacek Gronwald
    Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland
    Breast Cancer Res Treat 94:111-3. 2005
    ..Our analysis shows that testing of 4153delA, 5382insC, C61G BRCA1 mutations should be extremely effective and inexpensive tool in testing Lithuanian population aimed to identify individuals with high risk of breast and ovarian cancers...
  51. pmc Association of common WRAP 53 variant with ovarian cancer risk in the Polish population
    Krzysztof Medrek
    Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland
    Mol Biol Rep 40:2145-7. 2013
    ..In conclusion SNPs in WRAP53 (rs2287497 and rs2287498) have stronger association with an ovarian cancer risk than rs1042522 in TP53. ..
  52. ncbi request reprint Comparison of genomic abnormalities between BRCAX and sporadic breast cancers studied by comparative genomic hybridization
    Jacek Gronwald
    Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, ul Połabska 4, 70 115 Szczecin, Poland
    Int J Cancer 114:230-6. 2005
    ..These findings need confirmation by more extensive studies because only a limited number of cases were analysed and there are relatively few reports published...
  53. ncbi request reprint Premature menopause in patients with BRCA1 gene mutation
    Izabella Rzepka-Górska
    Department of Gynecological Surgery and Oncology of Adults and Adolescents, Pomeranian Medical University of Szczecin, Poland, ul Powstancow Wielkopolskich 72, 70 111 Szczecin, Poland
    Breast Cancer Res Treat 100:59-63. 2006
    ..It is concluded from these findings that earlier menopause in carriers of the BRCA1 mutation is associated with hypergonadotropic activity and may predispose to ovarian cancer at younger age...
  54. pmc Mutations in the von hippel-lindau tumour suppressor gene in central nervous system hemangioblastomas
    Cezary Cybulski
    International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland
    Hered Cancer Clin Pract 2:93-7. 2004
    ..We were able to obtain blood samples from 19 of mutation positive cases. Eight (42%) of these harboured germline mutations in persons from distinct undiagnosed VHL families...
  55. ncbi request reprint Retinal dysfunction in eyes of patients with BRCA1 gene mutation
    Wojciech Lubinski
    Clinic of Ophthalmology, Pomeranian Medical University, Szczecin, Poland
    Klin Oczna 107:603-6. 2005
    ..To assess the retinal function in BRCA1 gene mutation carriers...
  56. ncbi request reprint Impact of microsatellite testing and mismatch repair protein expression on the clinical interpretation of genetic testing in hereditary non-polyposis colorectal cancer
    Robyn Ward
    School of Medical Science, University of NSW, Sydney, Australia
    J Cancer Res Clin Oncol 128:403-11. 2002
    ..The aim of this study was to retrospectively assess the clinical utility of immunostaining and microsatellite instability testing in a group of individuals in whom germline testing of hMSH2 and hMLH1 had already been performed...
  57. ncbi request reprint MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer
    Megan Hitchins
    Department of Medical Oncology, St Vincent s Hospital, Sydney, New South Wales, Australia
    Gastroenterology 129:1392-9. 2005
    ..In this study, we determined the frequency and role of germline epimutations of MLH1 in HNPCC...
  58. ncbi request reprint The PAI-1 4G/5G gene polymorphism and ischemic stroke: an association study and meta-analysis
    John Attia
    Centre for Clinical Epidemiology and Biostatistics, School of Medicine and Public Health, University of Newcastle, Newcastle NSW Australia
    J Stroke Cerebrovasc Dis 16:173-9. 2007
    ..The results also sound a cautionary note that varying LD structure across populations may obscure the relationship with a causative locus, and that future meta-analyses need to look beyond a simple pooled estimate...
  59. ncbi request reprint The NSW & ACT Hereditary Cancer Registers
    Libby Weir
    Hereditary Cancer Registers, The Cancer Council New South Wales
    Aust Fam Physician 34:53-8. 2005
    ..The NSW & ACT Hereditary Cancer Registers (HCR) offer registration to people from families at risk for hereditary cancer...
  60. ncbi request reprint Inflammatory subtypes in asthma: assessment and identification using induced sputum
    Jodie L Simpson
    School of Medical Practice and Population Health, Hunter Medical Research Institute, The University of Newcastle, Callaghan, New South Wales, Australia
    Respirology 11:54-61. 2006
    ..The authors sought to investigate the detection of non-eosinophilic asthma using induced sputum. Although this is an important subtype of clinical asthma, its recognition is not standardized...
  61. ncbi request reprint Gene symbol: STK11. Disease: Peutz-Jeghers Syndrome
    Rodney Scott
    University of Newcastle, School of Biomedical Sciences, Hunter Area Pathology Service, Lookout Road, NSW 2305, New Lambton, Australia
    Hum Genet 124:300. 2008
  62. ncbi request reprint Clinical and epidemiological features of familial laryngeal cancer in Poland
    Ewa Jaworowska
    Department of Otolaryngology and Laryngological Oncology, Pomeranian Medical University, ul Unii Lubelskiej 1, 71252 Szczecin, Poland
    Cancer Detect Prev 31:270-5. 2007
    ..In this study we wished to determine if there are any clinical features of the disease that may be useful for the identification of genetic susceptibility loci associated with the disorder...
  63. pmc Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation
    Guy Froyen
    Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, B 3000 Leuven, Belgium
    Am J Hum Genet 82:432-43. 2008
    ..Our findings demonstrate that an increased gene dosage of HSD17B10, HUWE1, or both contribute to the etiology of XLMR and suggest that point mutations in HUWE1 are associated with this disease too...
  64. pmc Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35
    Mary L Marazita
    Center for Craniofacial and Dental Genetics, Division of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 15219, USA
    Am J Hum Genet 75:161-73. 2004
    ..0004). These are the first genomewide significant linkage results ever reported for CL/P, and they represent an unprecedented demonstration of the power of linkage analysis to detect multiple genes simultaneously for a complex disorder...